1. Arutiunian V, Lopukhina A, Minnigulova A, Shlyakhova A, Davydova E, Pereverzeva D, Sorokin A, Tyushkevich S, Mamokhina U, Danilina K, Dragoy O. Expressive and Receptive Language in Russian Primary-School-Aged Children with Autism Spectrum Disorder. Research in developmental disabilities. 2021; 117: 104042.

BACKGROUND: Abnormal language development in both expressive and receptive domains occurs in most children with Autism Spectrum Disorder (ASD), although the language deficit is not a core symptom of ASD. However, previous studies disagree on the difference in the degree of impairment between expressive and receptive language in ASD. Existing research has concentrated on vocabulary and ‘global expressive and receptive language’, often using parental reports for language assessment. Moreover, most of these studies have focused on toddlers and preschoolers with ASD, whereas data from school-aged children with ASD are very limited. At the same time, the age of children might account for the inconsistencies across publications on expressive-receptive language difference in children with ASD. AIMS: The goal of the study was to directly compare the expressive and receptive language abilities of Russian primary-school-aged children with ASD (7-11 years old) at the levels of vocabulary, morphosyntax, and discourse. METHODS: 82 children with ASD participated in language testing. We used tests from the Russian Child Language Assessment Battery in order to assess vocabulary, morphosyntax, and discourse in expressive and receptive domains. RESULTS: Our results revealed different expressive and receptive patterns, depending on the linguistic level and tests complexity. Importantly, we showed that children’s non-verbal IQ partly accounted for the difference between production and comprehension abilities. CONCLUSIONS: The expressive-better-than-receptive pattern in language has been considered by some authors as the unique hallmark of ASD. However, several studies, including our own, show that this is not a universal characteristic of ASD. We also revealed that expressive and receptive language patterns differed depending on the linguistic level, children’s non-verbal IQ, and assessment tools.

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2. Baj J, Flieger W, Flieger M, Forma A, Sitarz E, Skórzyńska-Dziduszko K, Grochowski C, Maciejewski R, Karakuła-Juchnowicz H. Autism spectrum disorder: Trace elements imbalances and the pathogenesis and severity of autistic symptoms. Neuroscience and biobehavioral reviews. 2021; 129: 117-32.

The identification of biomarkers as diagnostic tools and predictors of response to treatment of neurological developmental disorders (NDD) such as schizophrenia (SZ), attention deficit hyperactivity disorder (ADHD), or autism spectrum disorder (ASD), still remains an important challenge for clinical medicine. Metallomic profiles of ASD patients cover, besides essential elements such as cobalt, chromium, copper, iron, manganese, molybdenum, zinc, selenium, also toxic metals burden of: aluminum, arsenic, mercury, lead, beryllium, nickel, cadmium. Performed studies indicate that children with ASD present a reduced ability of eliminating toxic metals, which leads to these metals’ accumulation and aggravation of autistic symptoms. Extensive metallomic studies allow a better understanding of the importance of trace elements as environmental factors in the pathogenesis of ASD. Even though a mineral imbalance is a fact in ASD, we are still expecting relevant tests and the elaboration of reference levels of trace elements as potential biomarkers useful in diagnosis, prevention, and treatment of ASD.

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3. Breland L. Pretense Awareness Context and Autism: Insights from Conversation Analysis. Journal of autism and developmental disorders. 2021.

Utilizing approaches from Conversation Analysis and Interactional Sociolinguistics, this study investigates linguistic resources related to discourse while playing a tabletop roleplaying game, with particular investigation around the discourse of individuals with autism spectrum disorder. The study examines interactions as they take place across three frames that are associated with interaction in this community of practice: the primary frame, the metagaming frame, and the character frame. The study found that the participants with autism frequently violated the stable pretense awareness context that persists across these frames in tabletop roleplaying game discourse. This research has implications for social skills training methods and psychological models of autism symptomatology.

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4. Cao H, Wang J, Baranova A, Zhang F. Classifying major mental disorders genetically. Progress in neuro-psychopharmacology & biological psychiatry. 2022; 112: 110410.

Typically, mental disorders are defined and classified based on clinical symptoms and syndromes. Although clinically useful, current diagnostic systems for psychiatry cause concerns due to the lack of biological mechanisms. Deciphering the relationships among psychiatric traits according to their genetic basis may facilitate understanding the biological mechanisms of psychiatric disorders. Ten mental disorders were classified by genomic structural equation modeling (SEM), which leverages summary results of genome-wide association studies. Attention-deficit/hyperactivity disorder (ADHD), anorexia nervosa (AN), anxiety disorder (ANX), autism spectrum disorder (ASD), bipolar disorder (BD), major depressive disorder (MDD), obsessive-compulsive disorder (OCD), posttraumatic stress disorder (PTSD), schizophrenia (SZ), and Tourette syndrome (TS) were included. The analysis indicates that they are genetically inter-correlated with one another and can be separated based on their general psychopathology. Most disorders have a close partner, forming pairs of traits; only TS is a relatively distinctive condition. At a higher level, MDD, ANX, ADHD, ASD, and PTSD cluster together, while OCD, AN, and TS cluster together. Together, the ten traits constitute a hierarchical classificatory system. This study allows inference of genetically determined classification of the ten mental disorders, which may biologically inform the current diagnostic framework and treatment regimens for mental disorders.

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5. Chai AP, Chen XF, Xu XS, Zhang N, Li M, Li JN, Zhang L, Zhang D, Zhang X, Mao RR, Ding YQ, Xu L, Zhou QX. A Temporal Activity of CA1 Neurons Underlying Short-Term Memory for Social Recognition Altered in PTEN Mouse Models of Autism Spectrum Disorder. Frontiers in cellular neuroscience. 2021; 15: 699315.

Memory-guided social recognition identifies someone from previous encounters or experiences, but the mechanisms of social memory remain unclear. Here, we find that a short-term memory from experiencing a stranger mouse lasting under 30 min interval is essential for subsequent social recognition in mice, but that interval prolonged to hours by replacing the stranger mouse with a familiar littermate. Optogenetic silencing of dorsal CA1 neuronal activity during trials or inter-trial intervals disrupted short-term memory-guided social recognition, without affecting the ability of being sociable or long-term memory-guided social recognition. Postnatal knockdown or knockout of autism spectrum disorder (ASD)-associated phosphatase and tensin homolog (PTEN) gene in dorsal hippocampal CA1 similarly impaired neuronal firing rate in vitro and altered firing pattern during social recognition. These PTEN mice showed deficits in social recognition with stranger mouse rather than littermate and exhibited impairment in T-maze spontaneous alternation task for testing short-term spatial memory. Thus, we suggest that a temporal activity of dorsal CA1 neurons may underlie formation of short-term memory to be critical for organizing subsequent social recognition but that is possibly disrupted in ASD.

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6. Fageeh HN, Mansour MA, Thubab HY, Jarab MB, Juraybi AY, Zakri HH, Bahri AM. The Role of Applied Behavior Analysis to Improve Knowledge on Oral Hygiene Practices among Cooperative Autistic Children: A Cross-Sectional Study from Jazan, Saudi Arabia. International journal of dentistry. 2021; 2021: 9491496.

OBJECTIVE: To assess the effectiveness of Applied Behavior Analysis (ABA) to improve knowledge regarding oral hygiene practices among cooperative autistic children. MATERIALS AND METHODS: A cross-sectional study was conducted among 15 children between the age group of 6-12 years and their parents who were randomly chosen from a special care autistic school in Jazan, Saudi Arabia. A mobile application was custom designed and programmed with videos on oral hygiene. A close-ended questionnaire comprising 14 questions for the cooperative autistic children and 21 questions for their parents was designed to assess their knowledge in relation to oral health and hygiene. After four weeks, a questionnaire-based knowledge assessment was conducted. The mean knowledge score was then calculated for children and their parents and compared using paired sample t-test. RESULTS: Poor knowledge regarding oral hygiene practices was revealed among the study participants. The estimated mean score among the children was 4.73 before the intervention, which significantly increased to 9.0. The estimated mean score for the parents was 9.3 before intervention and 14.6 after four weeks’ period (P < 0.0001). CONCLUSION: The application of ABA using avatars and delivered through videos can significantly improve knowledge regarding oral health hygiene among cooperative autistic children.

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7. Jackson-Cowan L, Cole EF, Arbiser JL, Silverberg JI, Lawley LP. TH2 sensitization in the skin-gut-brain axis: How early-life Th2-mediated inflammation may negatively perpetuate developmental and psychologic abnormalities. Pediatric dermatology. 2021; 38(5): 1032-9.

We recently reported children with comorbid atopic dermatitis (AD), asthma, allergic rhinitis, and food allergies displaying a 2.7-fold increase in developmental delays.(2) To this end, we hypothesize unregulated increases in T helper-2 (Th2)-driven inflammation, such as those seen in atopic diseases, can exert deleterious effects on the developing brain. Recognizing that available information is incomplete and that many potential associations are not firmly established, we speculate these effects underlie the association between Th2 sensitization and cognitive dysfunction in children. In this review, we explore the role of Th2 sensitization in the skin-gut-brain axis and explain how it can lead to reduced connectivity and transmission in the developing brain. With a focus on AD, we explore the association between Th2 sensitization and developmental abnormalities such as developmental delays, memory impairment, autism spectrum disorder (ASD), and epilepsy/seizures. As such, we review the available literature to examine the impact of increased IL-4 exposure in early life on the brain. We explore the possible association between Th2 sensitization and psychologic dysfunction such as attention-deficit/hyperactivity disorder (ADHD), depression, anxiety, and suicidal ideation. We also examine the impact that increased exposure to glucocorticoids and neurotrophins in early life exerts on the developing brain. Last, we discuss future directions for the advancement of our knowledge as a scientific community including possible interventions to reduce developmental and psychologic aberrations in children.

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8. Likhitweerawong N, Thonusin C, Boonchooduang N, Louthrenoo O, Nookaew I, Chattipakorn N, Chattipakorn SC. Profiles of urine and blood metabolomics in autism spectrum disorders. Metabolic brain disease. 2021; 36(7): 1641-71.

Early diagnosis and treatment for autism spectrum disorder (ASD) pose challenges. The current diagnostic approach for ASD is mainly clinical assessment of patient behaviors. Biomarkers-based identification of ASD would be useful for pediatricians. Currently, there is no specific treatment for ASD, and evidence for the efficacy of alternative treatments remains inconclusive. The prevalence of ASD is increasing, and it is becoming more urgent to find the pathogenesis of such disorder. Metabolomic studies have been used to deeply investigate the alteration of metabolic pathways, including those associated with ASD. Metabolomics is a promising tool for identifying potential biomarkers and possible pathogenesis of ASD. This review comprehensively summarizes and discusses the abnormal metabolic pathways in ASD children, as indicated by evidence from metabolomic studies in urine and blood. In addition, the targeted interventions that could correct the metabolomic profiles relating to the improvement of autistic behaviors in affected animals and humans have been included. The results revealed that the possible underlying pathophysiology of ASD were alterations of amino acids, reactive oxidative stress, neurotransmitters, and microbiota-gut-brain axis. The potential common pathways shared by animal and human studies related to the improvement of ASD symptoms after pharmacological interventions were mammalian-microbial co-metabolite, purine metabolism, and fatty acid oxidation. The content of this review may contribute to novel biomarkers for the early diagnosis of ASD and possible therapeutic paradigms.

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9. Liuzzo Scorpo M, Corsello G, Maggio MC. Scurvy as an Alarm Bell of Autistic Spectrum Disorder in the First World: A Case Report of a 3-Year-Old Girl. The American journal of case reports. 2021; 22: e930583.

BACKGROUND Scurvy secondary to deficiency of vitamin C is a rare condition in children. The polymorphism of clinical signs and symptoms makes scurvy diagnosis a challenge for the pediatrician. CASE REPORT A 3-year-old girl came to our observation because she refused to walk and to stand, she showed petechiae, follicular hyperkeratosis on the limbs, and bleeding gums. After a physical exam, laboratory tests, and X-ray examinations, we suspected scurvy disease and started treatment with vitamin C. During the hospitalization, some relationship difficulties of the little girl emerged such as absence of eye contact, smiling and laughter without reason, solitary play activities, poor interaction with strangers, non-communicative language, and gestural stereotypes. Therefore, we suspected an autism spectrum disorder, which is often associated with vitamins intake deficiency secondary to food selectivity. After the administration of vitamins, there was a clinical improvement. Due to the suspicion of autism spectrum disorder, the neuropsychiatric team started neuro-psychomotor and speech therapy. CONCLUSIONS This case shows that although the incidence of scurvy has been greatly reduced in Western Europe, this pathology can still manifest itself, especially in vulnerable children, and its prompt diagnosis and therapy are important considering the excellent response to treatment.

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10. Lopata C, Rodgers JD, Donnelly JP, Thomeer ML, Lodi-Smith J, Gionis ZL, Andrews SL, Rajnisz CJ. Effect of COVID-19 Stay-at-Home Restrictions on Parent Reported Symptom Severity and Adaptive Functioning of Youth with ASD. Journal of developmental and physical disabilities. 2021: 1-12.

This study assessed the potential short-term effects of COVID-19 stay-at-home restrictions on ratings of ASD and comorbid symptoms severity and adaptive functioning of 69 youth, ages 8-16 years with ASD without intellectual disability. Parent/caregiver ratings were being collected in fall and spring over approximately two years when the restrictions were imposed four months prior to the final data collection point. Results indicated no significant changes in parent/caregiver ratings of ASD symptom severity, comorbid symptoms severity, social skills, or adaptive behaviors following the stay-at-home restrictions and little variability across the four data collection points. Although findings suggested minimal short-term effects on these symptoms and adaptive skills, ongoing monitoring is needed to assess longer-term impacts.

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11. Maeda T, Kidokoro H, Tachibana T, Shiraki A, Yamamoto H, Nakata T, Fukasawa T, Kubota T, Sato Y, Kato T, Natsume J, Okumura A, Hayakawa M. Trajectory of the incidence of brushes on preterm electroencephalogram and its association with neurodevelopment in extremely low birth weight infants. Brain & development. 2021; 43(10): 979-87.

BACKGROUND: Brush or delta brush is a well-known characteristic waveform in preterm electroencephalograms. However, the longitudinal trajectory of brushes and its association with neurodevelopment remain uncertain. METHODS: We analyzed the longitudinal incidence of brushes in 36 extremely low birth weight infants without severe brain lesions and its association with neurodevelopment and white matter abnormality. Conventional eight-channel electroencephalograms were recorded at 30, 32, 36, and 40 postmenstrual weeks (PMW). Incidence of brushes was calculated as the sum of brushes from each channel separated by active sleep and quiet sleep. A developmental delay was defined as a developmental quotient of <85 assessed at corrected age of 18 months. White matter abnormalities were evaluated with term-equivalent magnetic resonance imaging. RESULTS: The median incidence of brushes (per minute) in 36 infants at PMW 30, 32, 36, and 40 was 16.4, 20.4, 22.5, and 1.8 during active sleep and 7.5, 10.3, 11.5, and 1.7 during quiet sleep, respectively. Among the 36 infants, 14 infants were diagnosed with developmental delay. Longitudinal trajectories of the incidence of brushes were different between the normal and the delayed development groups. Brushes were observed most frequently at 36 PMW in the delayed development group. The incidence of brushes at 36 PMW was significantly correlated with the severity of white matter abnormalities and negatively correlated with the developmental quotient. CONCLUSION: The incidence of brushes at 36 PMW can be a unique predictor of early neurodevelopment in extremely low birth weight infants without severe brain lesions.

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12. Norton DJ, McBain RK, Murray GE, Khang J, Zong Z, Bollacke HR, Maher S, Levy DL, Ongur D, Chen Y. Normal Face Detection Over a Range of Luminance Contrasts in Adolescents With Autism Spectrum Disorder. Frontiers in psychology. 2021; 12: 667359.

Face recognition is impaired in autism spectrum disorders (ASDs), but the reason for this remains unclear. One possibility is that impairments in the ability to visually detect faces might be a factor. As a preliminary study in this vein, we measured face detection ability as a function of visual contrast level in 13 individuals with ASD, aged 13-18, and 18 neurotypical controls (NCs) in the same age range. We also measured contrast sensitivity, using sinusoidal grating stimuli, as a control task. Individuals with ASD did not differ from controls in face detection (p > 0.9) or contrast detection (p > 0.2) ability. Performance on contrast and face detection was significantly correlated in ASD but not in NC. Results suggest that the ability to visually detect faces is not altered in ASD overall, but that alterations in basic visual processing may affect face detection ability in some individuals with ASD.

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13. Prats C, Fatjó-Vilas M, Penzol MJ, Kebir O, Pina-Camacho L, Demontis D, Crespo-Facorro B, Peralta V, González-Pinto A, Pomarol-Clotet E, Papiol S, Parellada M, Krebs MO, Fañanás L. Association and epistatic analysis of white matter related genes across the continuum schizophrenia and autism spectrum disorders: The joint effect of NRG1-ErbB genes. The world journal of biological psychiatry : the official journal of the World Federation of Societies of Biological Psychiatry. 2021: 1-11.

BACKGROUND: Schizophrenia-spectrum disorders (SSD) and Autism spectrum disorders (ASD) are neurodevelopmental disorders that share clinical, cognitive, and genetic characteristics, as well as particular white matter (WM) abnormalities. In this study, we aimed to investigate the role of a set of oligodendrocyte/myelin-related (OMR) genes and their epistatic effect on the risk for SSD and ASD. METHODS: We examined 108 SNPs in a set of 22 OMR genes in 1749 subjects divided into three independent samples (187 SSD trios, 915 SSD cases/control, and 91 ASD trios). Genetic association and gene-gene interaction analyses were conducted with PLINK and MB-MDR, and permutation procedures were implemented in both. RESULTS: Some OMR genes showed an association trend with SSD, while after correction, the ones that remained significantly associated were MBP, ERBB3, and AKT1. Significant gene-gene interactions were found between (i) NRG1*MBP (perm p-value = 0.002) in the SSD trios sample, (ii) ERBB3*AKT1 (perm p-value = 0.001) in the SSD case-control sample, and (iii) ERBB3*QKI (perm p-value = 0.0006) in the ASD trios sample. DISCUSSION: Our results suggest the implication of OMR genes in the risk for both SSD and ASD and highlight the role of NRG1 and ERBB genes. These findings are in line with the previous evidence and may suggest pathophysiological mechanisms related to NRG1/ERBBs signalling in these disorders.

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14. Torres A, Lecusay D, Valdez D, Rosoli A, Garrido G, Cukier S, Paula CS, Garcia R, Rattazzi A, Montiel-Nava C. Use of allied-health services and medication among adults with ASD in Latin America. Autism research : official journal of the International Society for Autism Research. 2021; 14(10): 2200-11.

ASD is a neurodevelopmental disorder that affects people across the entire lifespan, yet most of the research identifying the health and medical needs for autistic individuals have been among minors. As individuals with ASD transition to emerging adulthood, the services, already limited, become less available. This study aimed to identify the use of services for Latin American adults on the spectrum. We surveyed 295 caregivers of adults with ASD from six Latin American countries. Comparing the results for all the possible services observed in this study, the adults in our sample were primarily underserved: 84.4%-95.9% were receiving zero hours per week, 3.7%-12.9% 1%-10 h, 0%-1.7% 11-20, and only 0%-1% above 20 h of services. Almost half of the sample used medication, and neurologists were the most consulted health providers. Next to inexistent health care usage in Latin American adults with ASD highlights socioeconomic and health disparities in service provision for ASD in the region. The lack of services places adults with ASD in Latin America at a higher risk of worse symptom severity than autistic adults from regions with broader access to services. LAY SUMMARY: This study aimed to identify the quantity of services received by adults with autism in Latin America. Most of our sample was not receiving health services yet almost half had access to medication. This could mean that adults with autism in Latin America are at higher risk for poorer health.

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15. Wang X, Gao C, Zhang Y, Hu S, Qiao Y, Zhao Z, Gou L, Song J, Wang Q. Overexpression of mGluR7 in the Prefrontal Cortex Attenuates Autistic Behaviors in Mice. Frontiers in cellular neuroscience. 2021; 15: 689611.

Autism spectrum disorder (ASD) is associated with a range of abnormalities pertaining to socialization, communication, repetitive behaviors, and restricted interests. Owing to its complexity, the etiology of ASD remains incompletely understood. The presynaptic G protein-coupled glutamate receptor metabotropic glutamate receptor 7 (mGluR7) is known to be essential for synaptic transmission and is also tightly linked with ASD incidence. Herein, we report that prefrontal cortex (PFC) mGluR7 protein levels were decreased in C57BL/6J mice exposed to valproic acid (VPA) and BTBR T(+) Itpr3(tf)/J mice. The overexpression of mGluR7 in the PFC of these mice using a lentiviral vector was sufficient to reduce the severity of ASD-like behavioral patterns such that animals exhibited decreases in abnormal social interactions and communication, anxiety-like, and stereotyped/repetitive behaviors. Intriguingly, patch-clamp recordings revealed that the overexpression of mGluR7 suppressed neuronal excitability by inhibiting action potential discharge frequencies, together with enhanced action potential threshold and increased rheobase. These data offer a scientific basis for the additional study of mGluR7 as a promising therapeutic target in ASD and related neurodevelopmental disorders.

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16. Yang Y, Zhao J, Li Y, Li X, Chen X, Feng Z. Fragile X mental retardation protein-regulated proinflammatory cytokine expression in the spinal cord contributes to the pathogenesis of inflammatory pain induced by complete Freund’s adjuvant. Journal of neurochemistry. 2021; 159(3): 512-24.

Studies have verified that Fragile X mental retardation protein (FMRP), an RNA-binding protein, plays a potential role in the pathogenesis of formalin- and (RS)-3,5-dihydroxyphenylglycine-induced abnormal pain sensations. However, the role of FMRP in inflammatory pain has not been reported. Here, we showed an increase in FMRP expression in the spinal dorsal horn (SDH) in a rat model of inflammatory pain induced by complete Freund’s adjuvant (CFA). Double immunofluorescence staining revealed that FMRP was mainly expressed in spinal neurons and colocalized with proinflammatory cytokines [tumor necrosis factor-α (TNF-α) and interleukin-6 (IL-6)]. After consecutive intrathecal injection of fragile X mental retardation 1 small interfering RNA for 3 days post-CFA injection, FMRP expression in the SDH was reduced, and CFA-induced hyperalgesia was decreased. In addition, the CFA-induced increase in spinal TNF-α and IL-6 production was significantly suppressed by intrathecal administration of fragile X mental retardation 1 small interfering RNA. Together, these results suggest that FMRP regulates TNF-α and IL-6 levels in the SDH and plays an important role in inflammatory pain.

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